RBCC Red Blood Cell Collection

RA51D_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: RAD51D , RAD51L3
Protein names and data: RA51D_HUMAN , DNA repair protein RAD51 homolog 4 , R51H3; RAD51 homolog D; RAD51-like protein 3; TRAD Lenght: 328 a.a.
Mass: 35049 Da
fasta formatted sequence
Function: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. The BCDX2 complex binds single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA.
Disease: ( OMIM: 602954 614291 ) Breast-ovarian cancer, familial, 4 (BROVCA4) [MIM:614291]: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Cellular location: Nucleus (Probable).
Tissue specificity: Expressed in colon, prostate, spleen, testis, ovary, thymus and small intestine. Weakly expressed in leukocytes.

Genetic variants

24 - 24 R -> S (in dbSNP:rs28363257). VAR_020560 28363257
165 - 165 R -> Q (in dbSNP:rs4796033). VAR_020561 4796033
225 - 225 A -> T (in dbSNP:rs28363282). VAR_020562 28363282
232 - 232 R -> Q (in dbSNP:rs28363283). VAR_020563 28363283
233 - 233 E -> G (in dbSNP:rs28363284). VAR_020564 28363284

Database cross-references

UniProt: O75771
Ensembl: ENST00000335858
Ensembl: ENST00000345365
Ensembl: ENST00000357906
Ensembl: ENST00000360276
Ensembl: ENST00000394589
Ensembl: ENST00000586044
Ensembl: ENST00000587977
Ensembl: ENST00000588594
Ensembl: ENST00000590016
MIM: 602954
MIM: 614291
neXtProt: NX_O75771
Antibodypedia: O75771 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2